A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975149



Internal ID22750084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212150080..212151454hg38UCSC Ensembl
chr1:212323422..212324796hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381375
hg191375
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354739
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975149
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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